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Funded Publications

Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.

  1. Child and family characteristics moderate agreement between caregiver and clinician report of autism symptoms.

    Autism Res., February 28, 2018

    Neuhaus E., Beauchaine T.P., R. Bernier, and S. Webb

  2. Spontaneous CRISPR loci generation in vivo by non-canonical spacer integration.

    Nat. Microbiol., February 28, 2018

    Nivala J., S. Shipman, and G. Church

  3. Male-specific deficits in natural reward learning in a mouse model of neurodevelopmental disorders.

    Mol. Psychiatry, February 28, 2018

    Grissom N.M., McKee S.E., Schoch H., Bowman N., Havekes R., W. O'Brien, et al.

  4. Neural responses to linguistic stimuli in children with and without autism spectrum disorder.

    Eur. J. Neurosci., February 28, 2018

    Finch K.H., H. Tager-Flusberg, and C. Nelson

  5. Prenatal fever and autism risk.

    Mol. Psychiatry, February 28, 2018

    M. Hornig, Bresnahan M.A., Che X., Schultz A.F., Ukaigwe J.E., Eddy M.L., et al.

  6. Rbfox splicing factors promote neuronal maturation and axon initial segment assembly

    Neuron, February 20, 2018

    Jacko M., Weyn-Vanhentenryck S.M., Smerdon J.W., Yan R., Feng H., Williams D.J., et al.

  7. Damaging de novo mutations diminish motor skills in children on the autism spectrum.

    Proc. Natl. Acad. Sci. USA, February 19, 2018

    Buja A., N. Volfovsky, A. Krieger, C. Lord, M. Wigler, and I. Iossifov

  8. Maturation trajectories of cortical resting-state networks depend on the mediating frequency band.

    Neuroimage, February 16, 2018

    Khan S., Hashmi J.A., Mamashli F., Michmizos K., Kitzbichler M.G., Bharadwaj H., et al.

  9. Activity regulates cell death within cortical interneurons through a calcineurin-dependent mechanism.

    Cell Rep., February 12, 2018

    Priya R., Paredes M.F., Karayannis T., Yusuf N., Liu X., Jaglin X., et al.

  10. Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap.

    Science, February 8, 2018

    M. Gandal, Haney J.R., Parikshak N.N., Leppa V., Ramaswami G., Hartl C., et al.

  11. Normal CA1 place fields but discoordinated network discharge in a Fmr1-null mouse model of fragile X syndrome.

    Neuron, February 6, 2018

    Talbot, Z.N., Sparks, F.T., Dvorak, D., Curran, B.M., Alarcon, J.M., and A. Fenton

  12. SPARK: A US cohort of 50,000 families to accelerate autism research.

    Neuron, February 6, 2018

    SPARK Consortium

  13. An insula-central amygdala circuit for guiding tastant-reinforced choice behavior.

    J. Neurosci, February 6, 2018

    Schiff H.C., Bouhuis A.L., Yu K., Penzo M.A., Li H., He M., et al.

  14. A longitudinal investigation of preferential attention to biological motion in 2- to 24-month-old infants.

    Sci. Rep., February 5, 2018

    Sifre R., Olson L., Gillespie S., Jones W., and S. Shultz

  15. Neural circuit dysfunction in mouse models of neurodevelopmental disorders.

    Curr. Opin. Neurobiol., January 31, 2018

    Del Pino I., B. Rico, and O. Marín

  16. R-baclofen reverses cognitive deficits and improves social interactions in two lines of 16p11.2 deletion mice.

    Neuropsychopharmacology, January 31, 2018

    Stoppel L.J., Kazdoba T.M., Schaffler M.D., Preza A.R., Heynen A., J. Crawley, et al.

  17. Walking, gross motor development and brain functional connectivity in infants and toddlers.

    Cereb. Cortex, January 31, 2018

    Marrus N., Eggebrecht A.T., Todorov A., J. Elison, Wolff J.J., Cole L., et al.

  18. Adaptive behavior in autism: Minimal clinically important differences on the Vineland-II

    Autism Res., January 31, 2018

    Chatham C.H., Taylor K.I., Charman T., Liogier D'ardhuy X., Eule E., Fedele A., et al.

  19. DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/beta-catenin signaling.

    Mol. Psychiatry, January 31, 2018

    Martin P.M., Stanley R.E., Ross A.P., Freitas A.E., Moyer C.E., Brumback A.C., et al.

  20. Common functional variants of the glutamatergic system in autism spectrum disorder with high and low intellectual abilities.

    J. Neural Transm. (Vienna), January 29, 2018

    Chiocchetti A.G., Yousaf A., Bour H.S., Haslinger D., Waltes R., Duketis E., et al.

  21. The bidirectional association between sleep problems and autism spectrum disorder: A population-based cohort study.

    Mol. Autism, January 29, 2018

    Verhoeff M.E., Blanken L.M.E., Kocevska D., Mileva-Seitz V.R., Jaddoe V.W.V., T. White, et al.

  22. Sensory over-responsivity and social cognition in ASD: Effects of aversive sensory stimuli and attentional modulation on neural responses to social cues.

    Dev. Cogn. Neurosci., January 28, 2018

    Green S.A., Hernandez L.M., Bowman H.C., S. Bookheimer, and Dapretto M.

  23. A mouse model of autism implicates endosome pH in the regulation of presynaptic calcium entry.

    Nat. Commun., January 22, 2018

    Ullman J.C., Yang J., Sullivan M., Bendor J., Levy J., Pham E., et al.

  24. Abnormal speech motor control in individuals with 16p11.2 deletions.

    Sci. Rep., January 18, 2018

    Demopoulos C., Kothare H., Mizuiri D., Henderson-Sabes J., Fregeau B., J. Tjernagel, et al.

  25. Control of recollection by slow gamma dominating mid-frequency gamma in hippocampus CA1.

    PLoS Biol, January 17, 2018

    Dvorak D., Radwan B., Sparks F.T., Talbot Z.N., and A. Fenton

  26. Biallelic variants in KIF14 cause intellectual disability with microcephaly.

    Eur. J. Hum. Genet., January 16, 2018

    Makrythanasis P., Maroofian R., Stray-Pedersen A., Musaev D., Zaki M.S., Mahmoud I.G., et al.

  27. Integrative analyses of de novo mutations provide deeper biological insights into autism spectrum disorder.

    Cell Rep., January 14, 2018

    Takata A., Miyake N., Tsurusaki Y., Fukai R., Miyatake S., Koshimizu E., et al.

  28. Hierarchical genetic interactions between FOXG1 and LHX2 regulate the formation of the cortical hem in the developing telencephalon.

    Development, January 8, 2018

    Godbole G., Shetty A.S., Roy A., D'Souza L., Chen B., Miyoshi G., et al.

  29. Autism BrainNet: A network of postmortem brain banks established to facilitate autism research.

    Handb. Clin. Neurol., December 31, 2017

    D. Amaral, Anderson M.P., Ansorge O., S. Chance, Hare C., Hof P.R., et al.

  30. Differential attention to faces in infant siblings of children with autism spectrum disorder and associations with later social and language ability.

    Int. J. Behav. Dev., December 31, 2017

    Wagner J.B., Luyster R.J., Moustapha H., H. Tager-Flusberg, and C. Nelson

  31. A multisite, multidisciplinary Delphi consensus study describing "usual care" intervention strategies for school-age to transition-age youth with autism.

    J. Clin. Child Adolesc. Psychol., December 31, 2017

    Kerns C.M., Moskowitz L.J., Rosen T., Drahota A., Wainer A., Josephson A.R., et al.

  32. Modeling non-syndromic autism with human-induced pluripotent stem cells.

    Neurospychopharmacology, December 31, 2017

    Bury L.A.D and A. Wynshaw-Boris

  33. Dominant-negative SMARCA4 mutants alter the accessibility landscape of tissue-unrestricted enhancers.

    Nat. Struct. Mol. Biol., December 31, 2017

    Hodges H.C., Stanton B.Z., Cermakova K., Chang C-Y, Miller E.L., Kirkland J.G., et al.

  34. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

    Eur. J. Hum. Genet, December 31, 2017

    Jansen S., Hoischen A., Coe B.P., Carvill G.L., Van Esch H., Bosch D.G.M., et al.

  35. NetSig: Network-based discovery from cancer genomes.

    Nat. Methods, December 31, 2017

    Horn H., Lawrence M.S., Chouinard C.R., Shrestha Y., Hu J.X., Worstell E., et al.

  36. Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection.

    Autism Res., December 31, 2017

    Grzadzinski R., C. Lord, S. Sanders, D. Werling, and Bal V.H.

  37. Comprehensive analysis of two Shank3 and the Cacna1c mouse models of autism spectrum disorder.

    Genes Brain Behav., December 31, 2017

    Kabitzke P., Brunner D., He D., Fazio P.A., Cox K., Sutphen J., et al.

  38. Brain MR imaging findings and associated outcomes in carriers of the reciprocal copy number variation at 16p11.2.

    Radiology, December 31, 2017

    Owen J.P., Bukshpun P., Pojman N., Thieu T., Chen Q., Lee J., et al.

  39. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.

    J. Med. Genet., December 31, 2017

    Marin-Valencia I., G. Novarino, Johansen A., Rosti B., Issa M.Y., Musaev D., et al.

  40. A map of human mitochondrial protein interactions linked to neurodegeneration reveals new mechanisms of redox homeostasis and NF-kB signaling.

    Cell Syst., December 26, 2017

    Malty R.H., Aoki H., Kumar A., Phanse S., Amin S., Zhang Q., et al.

  41. Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders.

    Genome Med., December 19, 2017

    Nguyen H.T., Bryois J., Kim A., Dobbyn A., Huckins L.M., Munoz-Manchado A.B., et al.

  42. Mecp2 regulates tnfa during zebrafish embryonic development and acute inflammation.

    Dis. Model Mech., December 18, 2017

    van der Vaart M., Svoboda O., Weijts B.G., Espín-Palazón R., Sapp V., Pietri T., et al.

  43. Brain and behavior development in autism from birth through infancy.

    Dialogues Clin. Neurosci., December 18, 2017

    Shen M.D. and J. Piven

  44. Two-photon imaging in mice shows striosomes and matrix have overlapping but differential reinforcement-related responses.

    eLife, December 17, 2017

    Bloem B., Huda R., M. Sur, and A. Graybiel

  45. Oxytocin signaling in the medial amygdala is required for sex discrimination of social cues.

    Elife, December 11, 2017

    Yao S., Bergan J., Lanjuin A., and C. Dulac

  46. Copy number variants in people with autism spectrum disorders and co-morbid psychosis.

    Eur. J. Med. Genet., December 6, 2017

    Larson F.V., Arrand J.R., Tantam D., Jones P.B., and Holland A.J.

  47. Disc1 regulates neurogenesis via modulating kinetochore attachment of Ndel1/Nde1 during mitosis.

    Neuron, December 6, 2017

    Ye F., Kang E., Yu C., Qian X., Jacob F., Yu C., et al.

  48. Longitudinal report of child with de novo 16p11.2 triplication.

    Clin. Case Rep., December 5, 2017

    Wallace A.S., Hudac C.M., Steinman K.J., Peterson J.L., DesChamps T.D., Duyzend M.H., et al.